rs35703638
This is a variant in the WDR36 gene that changes a alanine to an threonine.
▶ClinVar annotation
Glaucoma 1, open angle, G (GLC1G); Usher syndrome type 2C; WDR36-related disorder
View on ClinVar →▶Research that mentions this SNP (1)
▶Disease variants in genomes of 44 centenariansCase reportN=44Yun Freudenberg‐Hua et al.(2014)· Molecular Genetics & Genomic Medicine
Whole genome sequencing of 44 Ashkenazi Jewish centenarians identified 216 coding variants annotated as pathogenic or likely pathogenic in ClinVar. The study found 130 rare variants (MAF <5%) reported to cause degenerative, neoplastic, and cardiac diseases with various inheritance patterns. Notably, several carriers had no clinical manifestations despite carrying variants linked to serious diseases (e.g., an APOE ε4 homozygote without Alzheimer's disease, a UBQLN2 P525S carrier without ALS). These findings suggest incomplete penetrance and reduced clinical significance for many reported disease mutations.
About WDR36
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Mutations in this gene have been associated with adult-onset primary open-angle glaucoma (POAG). [provided by RefSeq, Jul 2008]
View all WDR36 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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